"Aspartylglucosaminuria" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A recessively inherited, progressive lysosomal storage disease caused by a deficiency of GLYCOSYLASPARAGINASE activity. The lack of this enzyme activity results in the accumulation of N-acetylglucosaminylasparagine (the linkage unit of asparagine-linked glycoproteins) in LYSOSOMES.
| Descriptor ID |
D054880
|
| MeSH Number(s) |
C16.320.565.595.100 C18.452.648.595.100
|
| Concept/Terms |
Aspartylglucosaminuria- Aspartylglucosaminuria
- Aspartylglucosaminurias
- AGA Deficiency
- AGA Deficiencies
- Deficiencies, AGA
- Deficiency, AGA
- Aspartylglucosamidase Deficiency
- Aspartylglucosamidase Deficiencies
- Deficiencies, Aspartylglucosamidase
- Deficiency, Aspartylglucosamidase
- Aspartylglycosaminuria
- Aspartylglycosaminurias
- Glycoasparaginase
- Glycoasparaginases
|
Below are MeSH descriptors whose meaning is more general than "Aspartylglucosaminuria".
Below are MeSH descriptors whose meaning is more specific than "Aspartylglucosaminuria".
This graph shows the total number of publications written about "Aspartylglucosaminuria" by people in this website by year, and whether "Aspartylglucosaminuria" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2023 | 1 | 0 | 1 |
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Below are the most recent publications written about "Aspartylglucosaminuria" by people in Profiles.
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A new horizon in the phosphorylated sites of AGA: the structural impact of C163S mutation in aspartylglucosaminuria through molecular dynamics simulation. J Biomol Struct Dyn. 2024 May; 42(8):4313-4324.